(Q33751782)

English

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

29 July 2017

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32. (English)

1 reference

Europe PubMed Central

29 July 2017

4

1 reference

Europe PubMed Central

29 July 2017

Kathryn P. Burdon

object named as

Kathryn P Burdon

7

0 references

6

object named as

Jamie E Craig

1 reference

Europe PubMed Central

29 July 2017

author name string

Kathryn Hattersley

1

1 reference

Europe PubMed Central

29 July 2017

Kate J Laurie

2

1 reference

Europe PubMed Central

29 July 2017

Jan E Liebelt

3

1 reference

Europe PubMed Central

29 July 2017

Shane R Durkin

5

1 reference

Europe PubMed Central

29 July 2017

publication date

19 November 2010

1 reference

Europe PubMed Central

29 July 2017

BMC Medical Genetics

1 reference

Europe PubMed Central

29 July 2017

11

1 reference

Europe PubMed Central

29 July 2017

165

1 reference

Europe PubMed Central

29 July 2017

https://scigraph.springernature.com/pub.10.1186/1471-2350-11-165

0 references

EPHA2 is associated with age-related cortical cataract in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

The EPHA2 gene is associated with cataracts linked to chromosome 1p

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Loss of ephrin-A5 function disrupts lens fiber cell packing and leads to cataract

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Monosomy 1p36 deletion syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Myc regulates keratinocyte adhesion and differentiation via complex formation with Miz1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Targeting of Miz-1 is essential for Myc-mediated apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Myc-interacting protein 1 target gene profile: a link to microtubules, extracellular signal-regulated kinase, and cell growth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Transcription factor MIZ-1 is regulated via microtubule association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

Characterization of PCP-2, a novel receptor protein tyrosine phosphatase of the MAM domain family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2995478

21 June 2018

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-165

21 January 2018

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-11-165

21 January 2018

Genomics shifts focus to rare diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/21092079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/21092079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36

1 reference

https://pubmed.ncbi.nlm.nih.gov/21092079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family

1 reference

https://pubmed.ncbi.nlm.nih.gov/21092079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2350-11-165

1 reference

Europe PubMed Central

29 July 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q33751782&oldid=1999432579"